The Role of Spontaneous Venous Pulsations in the Diagnosis of Adult Chiari Malformation

10.5580/878 ◽  
2009 ◽  
Vol 10 (2) ◽  
Keyword(s):  
Chiari Malformation

scholarly journals Vernix Caseo Granulomatous Meningitis (Vernicomyelia)

1991 ◽  
Vol 18 (1) ◽  
pp. 63-65 ◽  
Author(s):  
Rajiv Midha ◽  
Laurence E. Becker
Keyword(s):  
Spinal Cord ◽  
Foreign Body ◽  
Aseptic Meningitis ◽  
Chiari Malformation ◽  
Clinical Course ◽  
Giant Cells ◽  
Arnold Chiari Malformation ◽  
Foreign Body Giant Cells

ABSTRACT:An apneic and tetraplegic infant with an open lumbosacral myelomeningocele and an Arnold-Chiari malformation is reviewed. An exuberant chronic aseptic meningitis with foreign body giant cells and immunoreactive keratin was present around the spinal cord and brainstem. This paper discusses the recognition and role of granulomatous meningitis in the clinical course and in the pathogenesis of the unusual cerebellar abnormalities found in this infant.

scholarly journals Chiari Malformation and Attention Deficit Hyperactivity Disorder

2020 ◽  
Vol 2020 ◽  
pp. 1-3
Author(s):  
Anaïs DuBow ◽  
Aurélie Mourot ◽  
Smadar Valérie Tourjman
Keyword(s):  
Attention Deficit Hyperactivity Disorder ◽  
Ct Scan ◽  
Attention Deficit ◽  
Chiari Malformation ◽  
Foramen Magnum ◽  
Type I ◽  
Chiari Malformation Type I ◽  
Hyperactivity Disorder ◽  
Chiari Malformations

Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental condition characterized by inattention, hyperactivity, and impulsivity. Chiari malformations (CM), first described approximately a hundred years ago, refer to a spectrum of hindbrain malformations characterized by cerebellar herniation through the foramen magnum. We present the case of a 28-year-old woman with ADHD and concurrent Chiari malformation type I (CM-I) that was diagnosed by CT scan. There is growing evidence supporting the role of the cerebellum and its associated structures in the pathophysiology of ADHD. Thus, a cerebellar malformation such as CM may impact neurological circuitry in a manner favoring the development of a neuropsychiatric disorder such as ADHD. Our case highlights the need for further studies pertaining to the role of the cerebellum in the pathophysiology of ADHD and the importance of considering the presence of CM when evaluating a patient with ADHD.

scholarly journals Genome-wide identification of Chiari malformation type I associated candidate genes and chromosomal variations

2020 ◽  
Vol 44 (6) ◽  
pp. 449-456
Author(s):  
Timuçin AVŞAR ◽  
Şeyma ÇALIŞ ◽  
Baran YILMAZ ◽  
Gülden DEMİRCİ OTLUOĞLU ◽  
Can HOLYAVKİN ◽  
...  
Keyword(s):  
Chiari Malformation ◽  
Chromosome Region ◽  
Copy Number Variations ◽  
Molecular Pathogenesis ◽  
Type I ◽  
Chiari Malformation Type I ◽  
Single Nucleotide ◽  
R Ratio ◽  
Genome Wide

Chiari malformation type I (CMI) is a brain malformation that is characterized by herniation of the cerebellum into the spinal canal. Chiari malformation type I is highly heterogeneous; therefore, an accurate explanation of the pathogenesis of the disease is often not possible. Although some studies showed the role of genetics in CMI, the involvement of genetic variations in CMI pathogenesis has not been thoroughly elucidated. Therefore, in the current study we aim to reveal CMI-associated genomic variations in familial cases.Four CMI patients and 7 unaffected healthy members of two distinct families were analyzed. A microarray analysis of the affected and unaffected individuals from two Turkish families with CMI was conducted. Analyses of single nucleotide variations (SNVs) and copy number variations (CNVs) were performed by calculation of B allele frequency (BAF) and log R ratio (LRR) values from whole genome SNV data. Two missense variations, OLFML2A (rs7874348) and SLC4A9 (rs6860077), and a 5’UTR variation of COL4A1 (rs9521687) were significantly associated with CMI. Moreover, 12 SNVs in the intronic regions of FAM155A, NR3C1, TRPC7, ASTN2, and TRAF1 were determined to be associated with CMI. The CNV analysis showed that the 11p15.4 chromosome region is inherited in one of the families. The use of familial studies to explain the molecular pathogenesis of complex diseases such as CMI is crucial. It has been sug-gested that variations in OLFML2A, SLC4A9, and COL4A1 play a role in CMI molecular pathogenesis. The CNV analysis of individuals in both families revealed a potential chromosomal region, 11p15.4, and risk regions that are associated with CMI.

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